LOCUS       NM_001278431            1353 bp    mRNA    linear   PRI 27-MAY-2024
DEFINITION  Homo sapiens C1q and TNF related 5 (C1QTNF5), transcript variant 2,
            mRNA.
ACCESSION   NM_001278431
VERSION     NM_001278431.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1353)
  AUTHORS   Yu,L., Liu,X., Wei,X., Ren,J., Wang,X., Wu,S. and Lan,K.
  TITLE     C1QTNF5 is a novel attachment factor that facilitates the entry of
            influenza A virus
  JOURNAL   Virol Sin 39 (2), 277-289 (2024)
   PUBMED   38246238
  REMARK    GeneRIF: C1QTNF5 is a novel attachment factor that facilitates the
            entry of influenza A virus.
REFERENCE   2  (bases 1 to 1353)
  AUTHORS   Cheloni,R., Venkatesh,A., Rodriguez-Martinez,A.C. and Moosajee,M.
  TITLE     Longitudinal Changes of Retinal Structure in Molecularly Confirmed
            C1QTNF5 Patients With Late-Onset Retinal Degeneration
  JOURNAL   Transl Vis Sci Technol 12 (12), 14 (2023)
   PUBMED   38085246
  REMARK    GeneRIF: Longitudinal Changes of Retinal Structure in Molecularly
            Confirmed C1QTNF5 Patients With Late-Onset Retinal Degeneration.
REFERENCE   3  (bases 1 to 1353)
  AUTHORS   Takasawa,S., Shobatake,R., Itaya-Hironaka,A., Makino,M.,
            Uchiyama,T., Sakuramoto-Tsuchida,S., Takeda,Y., Ota,H. and
            Yamauchi,A.
  TITLE     Upregulation of IL-8, osteonectin, and myonectin mRNAs by
            intermittent hypoxia via OCT1- and NRF2-mediated mechanisms in
            skeletal muscle cells
  JOURNAL   J Cell Mol Med 26 (24), 6019-6031 (2022)
   PUBMED   36457269
  REMARK    GeneRIF: Upregulation of IL-8, osteonectin, and myonectin mRNAs by
            intermittent hypoxia via OCT1- and NRF2-mediated mechanisms in
            skeletal muscle cells.
REFERENCE   4  (bases 1 to 1353)
  AUTHORS   Chavali,V.R., Sommer,J.R., Petters,R.M. and Ayyagari,R.
  TITLE     Identification of a promoter for the human C1Q-tumor necrosis
            factor-related protein-5 gene associated with late-onset retinal
            degeneration
  JOURNAL   Invest Ophthalmol Vis Sci 51 (11), 5499-5507 (2010)
   PUBMED   20554618
  REMARK    GeneRIF: This study revealed the presence of a functional promoter
            for the CTRP5 gene located 5' of its start site.
REFERENCE   5  (bases 1 to 1353)
  AUTHORS   Kim,M.J., Lee,W., Park,E.J. and Park,S.Y.
  TITLE     Role of hepatocyte nuclear factor-4alpha in transcriptional
            regulation of C1qTNF-related protein 5 in the liver
  JOURNAL   FEBS Lett 584 (14), 3080-3084 (2010)
   PUBMED   20621834
REFERENCE   6  (bases 1 to 1353)
  AUTHORS   Subrayan,V., Morris,B., Armbrecht,A.M., Wright,A.F. and Dhillon,B.
  TITLE     Long anterior lens zonules in late-onset retinal degeneration
            (L-ORD)
  JOURNAL   Am J Ophthalmol 140 (6), 1127-1129 (2005)
   PUBMED   16376663
  REMARK    GeneRIF: In this family with a proven mutation in this gene,
            peripupillary iris atrophy and abnormally long anterior zonular
            insertions were present before retinal changes and visual loss.
REFERENCE   7  (bases 1 to 1353)
  AUTHORS   Ayyagari,R., Mandal,M.N., Karoukis,A.J., Chen,L., McLaren,N.C.,
            Lichter,M., Wong,D.T., Hitchcock,P.F., Caruso,R.C., Moroi,S.E.,
            Maumenee,I.H. and Sieving,P.A.
  TITLE     Late-onset macular degeneration and long anterior lens zonules
            result from a CTRP5 gene mutation
  JOURNAL   Invest Ophthalmol Vis Sci 46 (9), 3363-3371 (2005)
   PUBMED   16123441
  REMARK    GeneRIF: A single locus at 11q23 is implicated in a complex ocular
            phenotype involving RPE and CE, tissues of neuroectodermal origin.
REFERENCE   8  (bases 1 to 1353)
  AUTHORS   Hayward,C., Shu,X., Cideciyan,A.V., Lennon,A., Barran,P.,
            Zareparsi,S., Sawyer,L., Hendry,G., Dhillon,B., Milam,A.H.,
            Luthert,P.J., Swaroop,A., Hastie,N.D., Jacobson,S.G. and
            Wright,A.F.
  TITLE     Mutation in a short-chain collagen gene, CTRP5, results in
            extracellular deposit formation in late-onset retinal degeneration:
            a genetic model for age-related macular degeneration
  JOURNAL   Hum Mol Genet 12 (20), 2657-2667 (2003)
   PUBMED   12944416
  REMARK    GeneRIF: CTRP5 has a role in extracellular deposit formation in
            late-onset retinal degeneration
REFERENCE   9  (bases 1 to 1353)
  AUTHORS   Katoh,M.
  TITLE     Molecular cloning and characterization of MFRP, a novel gene
            encoding a membrane-type Frizzled-related protein
  JOURNAL   Biochem Biophys Res Commun 282 (1), 116-123 (2001)
   PUBMED   11263980
  REMARK    GeneRIF: cloning of the bicistronic transcript and characterization
            of the upstream ORF, MFRP
REFERENCE   10 (bases 1 to 1353)
  AUTHORS   Shapiro,L. and Scherer,P.E.
  TITLE     The crystal structure of a complement-1q family protein suggests an
            evolutionary link to tumor necrosis factor
  JOURNAL   Curr Biol 8 (6), 335-338 (1998)
   PUBMED   9512423
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC029485.1 and AY358383.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001278431.1.
            
            Summary: This gene encodes a member of a family of proteins that
            function as components of basement membranes and may play a role in
            cell adhesion. Mutations in this gene have been associated with
            late-onset retinal degeneration. The protein may be encoded by
            either a bicistronic transcript including sequence from the
            upstream membrane frizzled-related protein gene (MFRP), or by a
            monocistronic transcript expressed from an internal promoter.
            [provided by RefSeq, Jun 2013].
            
            Transcript Variant: This variant (2) lacks multiple 5' exons and
            represents use of an internal promoter, compared to variant 1. This
            variant is a monocistronic transcript that only encodes the C1QTNF5
            protein. Both variants 1 and 2 encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC029485.1, BI763193.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467144 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000528368.3/ ENSP00000431140.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-362               BC029485.1         2-363
            363-1353            AY358383.1         357-1347
FEATURES             Location/Qualifiers
     source          1..1353
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.3"
     gene            1..1353
                     /gene="C1QTNF5"
                     /gene_synonym="CTRP5; MFRP"
                     /note="C1q and TNF related 5"
                     /db_xref="GeneID:114902"
                     /db_xref="HGNC:HGNC:14344"
                     /db_xref="MIM:608752"
     exon            1..189
                     /gene="C1QTNF5"
                     /gene_synonym="CTRP5; MFRP"
                     /inference="alignment:Splign:2.1.0"
     exon            190..446
                     /gene="C1QTNF5"
                     /gene_synonym="CTRP5; MFRP"
                     /inference="alignment:Splign:2.1.0"
     CDS             233..964
                     /gene="C1QTNF5"
                     /gene_synonym="CTRP5; MFRP"
                     /note="myonectin; C1q TNF-alpha-related protein 5; C1q and
                     tumor necrosis factor related protein 5; Membrane
                     frizzled-related protein"
                     /codon_start=1
                     /product="complement C1q tumor necrosis factor-related
                     protein 5 precursor"
                     /protein_id="NP_001265360.1"
                     /db_xref="CCDS:CCDS8420.1"
                     /db_xref="GeneID:114902"
                     /db_xref="HGNC:HGNC:14344"
                     /db_xref="MIM:608752"
                     /translation="MRPLLVLLLLGLAAGSPPLDDNKIPSLCPGHPGLPGTPGHHGSQ
                     GLPGRDGRDGRDGAPGAPGEKGEGGRPGLPGPRGDPGPRGEAGPAGPTGPAGECSVPP
                     RSAFSAKRSESRVPPPSDAPLPFDRVLVNEQGHYDAVTGKFTCQVPGVYYFAVHATVY
                     RASLQFDLVKNGESIASFFQFFGGWPKPASLSGGAMVRLEPEDQVWVQVGVGDYIGIY
                     ASIKTDSTFSGFLVYSDWHSSPVFA"
     exon            447..1353
                     /gene="C1QTNF5"
                     /gene_synonym="CTRP5; MFRP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1335..1340
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C1QTNF5"
                     /gene_synonym="CTRP5; MFRP"
                     /note="hexamer: AATAAA"
     polyA_site      1353
                     /gene="C1QTNF5"
                     /gene_synonym="CTRP5; MFRP"
                     /note="major polyA site"
ORIGIN      
        1 gaacaactgg tttcctcttg gagtctggga ggaggaaagc ggagccggca gggagcgaac
       61 caggactggg gtgacggcag ggcagggggc gcctggccgg ggagaagcgc gggggctgga
      121 gcaccaccaa ctggagggtc cggagtagcg agcgccccga aggaggccat cggggagccg
      181 ggagggggga ctgcgagagg accccggcgt ccgggctccc ggtgccagcg ctatgaggcc
      241 actcctcgtc ctgctgctcc tgggcctggc ggccggctcg cccccactgg acgacaacaa
      301 gatccccagc ctctgcccgg ggcaccccgg ccttccaggc acgccgggcc accatggcag
      361 ccagggcttg ccgggccgcg atggccgcga cggccgcgac ggcgcgcccg gggctccggg
      421 agagaaaggc gagggcggga ggccgggact gccgggacct cgaggggacc ccgggccgcg
      481 aggagaggcg ggacccgcgg ggcccaccgg gcctgccggg gagtgctcgg tgcctccgcg
      541 atccgccttc agcgccaagc gctccgagag ccgggtgcct ccgccgtctg acgcaccctt
      601 gcccttcgac cgcgtgctgg tgaacgagca gggacattac gacgccgtca ccggcaagtt
      661 cacctgccag gtgcctgggg tctactactt cgccgtccat gccaccgtct accgggccag
      721 cctgcagttt gatctggtga agaatggcga atccattgcc tctttcttcc agtttttcgg
      781 ggggtggccc aagccagcct cgctctcggg gggggccatg gtgaggctgg agcctgagga
      841 ccaagtgtgg gtgcaggtgg gtgtgggtga ctacattggc atctatgcca gcatcaagac
      901 agacagcacc ttctccggat ttctggtgta ctccgactgg cacagctccc cagtctttgc
      961 ttagtgccca ctgcaaagtg agctcatgct ctcactccta gaaggagggt gtgaggctga
     1021 caaccaggtc atccaggagg gctggccccc ctggaatatt gtgaatgact agggaggtgg
     1081 ggtagagcac tctccgtcct gctgctggca aggaatggga acagtggctg tctgcgatca
     1141 ggtctggcag catggggcag tggctggatt tctgcccaag accagaggag tgtgctgtgc
     1201 tggcaagtgt aagtccccca gttgctctgg tccaggagcc cacggtgggg tgctctcttc
     1261 ctggtcctct gcttctctgg atcctcccca ccccctcctg ctcctggggc cggccctttt
     1321 ctcagagatc actcaataaa cctaagaacc ctc
//
